{"id":590,"date":"2013-10-16T18:23:58","date_gmt":"2013-10-16T18:23:58","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=590"},"modified":"2013-10-16T18:23:58","modified_gmt":"2013-10-16T18:23:58","slug":"3q27-3-microdeletional-syndrome-a-recognisable-clinical-entity-associating-dysmorphic-features-marfanoid-habitus-intellectual-disability-and-psychosis-with-mood-disorder","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/10\/16\/3q27-3-microdeletional-syndrome-a-recognisable-clinical-entity-associating-dysmorphic-features-marfanoid-habitus-intellectual-disability-and-psychosis-with-mood-disorder\/","title":{"rendered":"3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder"},"content":{"rendered":"<p>This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfano\u00efd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including <i>SST<\/i> for the neuropsychiatric findings; and <i>AHSG,<\/i> encoding a secreted protein implicated in the TGFb signalling pathway for the marfano\u00efd habitus. Interactive web-based databases such as Decipher are an essential tool for sharing data and clinical experience on very rare disorders. (By Dr. Julien Thevenon, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/10\/16\/jmedgenet-2013-101939\">http:\/\/jmg.bmj.com\/content\/early\/2013\/10\/16\/jmedgenet-2013-101939<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfano\u00efd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including SST for the neuropsychiatric findings; and AHSG, encoding a secreted [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/10\/16\/3q27-3-microdeletional-syndrome-a-recognisable-clinical-entity-associating-dysmorphic-features-marfanoid-habitus-intellectual-disability-and-psychosis-with-mood-disorder\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-590","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/590","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=590"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/590\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=590"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=590"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=590"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}